Familial Colorectal Cancer Syndrome X

Lessons From Lynch Syndrome: A Tumor Biology-Based Approach to Familial Colorectal Cancer

“…Importantly, patients with multiple or advanced serrated polyps may originate from CRC families who fall short of the WHO criteria. Some of these familial configurations are currently included by default under familial CRC type X, and the inclusion of these families within this category is likely to introduce further heterogeneity [66], thus hampering efforts to find the underlying genetic cause of both type X families and those with serrated neoplasia predisposition. The recognition of familial serrated neoplasia as a concept in its own right, and its distinction from Lynch syndrome [67] and MAP (Table 2) is an important step in the wider understanding and characterization of its genetics and biology.…”

Patient and tumor characteristics may raise clinicians' awareness of familial colorectal cancer: A Norwegian population-based study

“…a parent, sibling or a child) with CRC or at least two firstor second-degree relatives (SDRs ; i.e. grandparents, aunts, uncles, or grandchildren) with CRC are often classified as familial CRC or familial CRC X-syndrome [4,[7][8][9]. Family history information from CRC patients provides the basis for classifying the disease as sporadic or familial.…”

“…Lifetime risk of CRC in Western populations is about 5% [2], and familial clustering may account for up to 35% of all CRC cases [3][4][5][6][7]. The hereditary basis for most of the familial CRCs is largely unknown [3,4,[6][7][8], and only a small proportion of familial cases consists of well-established hereditary syndromes. Thus, Lynch syndrome (LS) (hereditary non-polyposis colorectal cancer, HNPCC) may be present in 3-5% of all CRC patients, and the polyposis syndromes account for approximately 1% of all cases [3].…”

“…It is believed that a large proportion of familial CRC is caused by yet unidentified factors such as low penetrance genes, oncogenic mechanisms that involve several genes, recessive genes, or epigenetic mechanisms [2][3][4][6][7][8][11][12][13][14]. Patients with hereditary syndromes will often present with CRC at an early age, and often report relatives with CRC or other tumors.…”

Fear of health insurance loss among individuals at risk for Huntington disease

“…Genetic testing is increasingly available for many conditions, including breast cancer, colon cancer, and Alzheimer disease [Chai, 2007; Herper and Langreth, 2007; Lipkin and Afrasiabi, 2007; Winslow, 2007]. Testing can lead to earlier diagnoses and improved treatment but also raises questions about potential genetic discrimination by insurance companies, employers, and others [Hudson et al, 1995; Sankar et al, 2003; Eltis, 2007; Nowlan, 2007a].…”